Recombinant Human PCBD1 Protein (His Tag)

Pterin-4-α-Carbinolamine Dehydratase (PCBD1) is the founding member of the Pterin-4-α-Carbinolamine Dehydratase Family. PCBD1 is involved in Tetrahydrobiopterin biosynthesis. It seems to prevent the formation of 7-Pterins and accelerate the formation of Quinonoid-BH2. Furthermore, PCBD1 regulates the homodimerization of the transcription factor Hepatocyte Nuclear Factor 1 (HNF1) and enhances its transcriptional activity. Defects in PCBD1 are the cause of BH4-Deficient Hyperphenylalaninemia Type D (HPABH4D) . HPABH4D is characterized by the excretion of 7-substituted Pterins in the urine of affected patients.

4-Alpha-Hydroxy-Tetrahydropterin Dehydratase; DCoH; Dimerization Cofactor of HNF1; Dimerization Cofactor of Hepatocyte Nuclear Factor 1-Alpha; PHS; Phenylalanine Hydroxylase-Stimulating Protein; Pterin Carbinolamine Dehy; Pterin-4-Alpha-Carbinolamine Dehydratase